True radial artery aneurysm in a patient with somatic mosaicism for a mutation in a platelet-derived growth factor receptor β gene

Abstract This is a case of a right radial artery aneurysm (RAA) in a 27 year old man with cerebral and coronary artery aneurysms, and features of Parkes-Weber syndrome (port-wine stains, right upper extremity arteriovenous malformation and overgrowth). The RAA was repaired with an interposition great saphenous vein (GSV) bypass graft. Intracranial artery aneurysm and affected skin analysis demonstrated somatic mutation in the platelet-derived growth factor receptor-β gene (PDGFRB). Mosaicism was present in the RAA but not the GSV. Somatic mosaicism should be considered as a possible etiology for peripheral aneurysms in patients for whom standard genetic testing is unrevealing.